Incidental Mutation 'R8421:Prdm8'
ID 653189
Institutional Source Beutler Lab
Gene Symbol Prdm8
Ensembl Gene ENSMUSG00000035456
Gene Name PR domain containing 8
Synonyms
MMRRC Submission 067898-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.519) question?
Stock # R8421 (G1)
Quality Score 150.008
Status Not validated
Chromosome 5
Chromosomal Location 98315241-98335313 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 98333822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 463 (A463V)
Ref Sequence ENSEMBL: ENSMUSP00000108583 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112959] [ENSMUST00000210477]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000112959
AA Change: A463V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108583
Gene: ENSMUSG00000035456
AA Change: A463V

DomainStartEndE-ValueType
SET 20 137 1.55e0 SMART
ZnF_C2H2 154 182 2.37e2 SMART
low complexity region 192 219 N/A INTRINSIC
low complexity region 275 291 N/A INTRINSIC
low complexity region 315 332 N/A INTRINSIC
low complexity region 397 427 N/A INTRINSIC
low complexity region 471 492 N/A INTRINSIC
low complexity region 556 570 N/A INTRINSIC
low complexity region 599 621 N/A INTRINSIC
ZnF_C2H2 624 646 9.22e0 SMART
ZnF_C2H2 665 687 1.2e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000210477
AA Change: A463V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 98% (56/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to a conserved family of histone methyltransferases that predominantly act as negative regulators of transcription. The encoded protein contains an N-terminal Su(var)3-9, Enhancer-of-zeste, and Trithorax (SET) domain and a double zinc-finger domain. Knockout of this gene in mouse results in mistargeting by neurons of the dorsal telencephalon, abnormal itch-like behavior, and impaired differentiation of rod bipolar cells. In humans, the protein has been shown to interact with the phosphatase laforin and the ubiquitin ligase malin, which regulate glycogen construction in the cytoplasm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit premature termination of corticopsinal motor neuron axons, absent corpus callosum and hippocampal commissure, excessive scratching, skin lesions, and contraction of hindpaws resulting a handstand phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 T C 14: 54,880,486 (GRCm39) E1239G unknown Het
Actn3 T C 19: 4,911,741 (GRCm39) M806V probably benign Het
Adcy7 A G 8: 89,048,812 (GRCm39) T676A probably benign Het
Ankef1 C A 2: 136,379,085 (GRCm39) Q12K probably damaging Het
Ankrd40 G T 11: 94,225,662 (GRCm39) G231V probably damaging Het
Atad5 T A 11: 79,985,384 (GRCm39) V157D probably damaging Het
Atp6v1b1 T A 6: 83,730,791 (GRCm39) M163K probably damaging Het
Atp7b A T 8: 22,518,487 (GRCm39) M117K probably benign Het
Ccdc87 T C 19: 4,891,313 (GRCm39) Y602H possibly damaging Het
Cdh16 C T 8: 105,348,602 (GRCm39) R142K probably benign Het
Chrnb3 G A 8: 27,886,718 (GRCm39) V431I probably damaging Het
Csf1r A G 18: 61,260,966 (GRCm39) D719G probably damaging Het
Ctsll3 A G 13: 60,948,595 (GRCm39) F88S probably damaging Het
Dglucy A G 12: 100,808,938 (GRCm39) Y212C probably damaging Het
Dnase1l3 T C 14: 7,968,122 (GRCm38) D261G possibly damaging Het
Dync2h1 T C 9: 7,102,477 (GRCm39) D2641G probably damaging Het
Fat3 A T 9: 15,909,480 (GRCm39) V2174D probably damaging Het
Gtf3c1 A G 7: 125,298,142 (GRCm39) L244P probably damaging Het
Hcn4 T A 9: 58,765,379 (GRCm39) D620E unknown Het
Ide A G 19: 37,255,403 (GRCm39) V800A Het
Ikbkb A T 8: 23,168,804 (GRCm39) probably null Het
Lin9 T A 1: 180,493,365 (GRCm39) F197Y probably damaging Het
Lrp1b T A 2: 40,615,435 (GRCm39) Y3656F Het
Mapkbp1 C A 2: 119,849,431 (GRCm39) N708K probably damaging Het
Marveld3 A G 8: 110,675,279 (GRCm39) M179T probably benign Het
Mrpl1 C G 5: 96,374,226 (GRCm39) A167G probably benign Het
Mrpl35 T C 6: 71,793,151 (GRCm39) K167E probably damaging Het
Myo3a T C 2: 22,366,935 (GRCm39) V594A probably benign Het
Nav2 A G 7: 49,102,269 (GRCm39) T356A probably benign Het
Nup210l A G 3: 90,111,174 (GRCm39) Y1692C probably damaging Het
Or8k22 T A 2: 86,163,247 (GRCm39) Y151F possibly damaging Het
Otoa G A 7: 120,698,491 (GRCm39) probably null Het
Oxnad1 T G 14: 31,821,431 (GRCm39) I172S probably benign Het
Padi4 C A 4: 140,475,533 (GRCm39) C544F probably damaging Het
Pard3 A C 8: 127,867,158 (GRCm39) probably benign Het
Plvap G A 8: 71,964,176 (GRCm39) T62M probably damaging Het
Potefam1 T A 2: 111,048,955 (GRCm39) K275* probably null Het
Prss21 T A 17: 24,088,342 (GRCm39) D102E possibly damaging Het
Psmb10 G T 8: 106,663,342 (GRCm39) Q182K probably benign Het
Rasgrf1 C T 9: 89,849,968 (GRCm39) P319S probably damaging Het
Rock1 G A 18: 10,072,863 (GRCm39) Q1161* probably null Het
Ryr3 T C 2: 112,826,929 (GRCm39) E112G probably benign Het
Samm50 A G 15: 84,094,786 (GRCm39) T393A probably benign Het
Slc9c1 A G 16: 45,413,734 (GRCm39) E954G probably damaging Het
Sulf2 T A 2: 165,958,972 (GRCm39) I79F probably benign Het
Tbx21 T C 11: 97,005,561 (GRCm39) K135E probably benign Het
Ube2q2l T C 6: 136,378,350 (GRCm39) E160G probably damaging Het
Unc13b A G 4: 43,178,304 (GRCm39) E3044G unknown Het
Usf3 A T 16: 44,037,572 (GRCm39) Q684L possibly damaging Het
Vmn1r114 A T 7: 20,545,459 (GRCm39) M218K possibly damaging Het
Vmn1r203 T G 13: 22,709,154 (GRCm39) *312G probably null Het
Vmn2r67 A C 7: 84,785,893 (GRCm39) L704R probably damaging Het
Zfp618 A G 4: 63,051,483 (GRCm39) T755A probably damaging Het
Zp3 A G 5: 136,017,331 (GRCm39) T381A probably benign Het
Zscan20 T C 4: 128,479,620 (GRCm39) D957G probably damaging Het
Other mutations in Prdm8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Prdm8 APN 5 98,331,202 (GRCm39) missense probably damaging 1.00
IGL02208:Prdm8 APN 5 98,331,324 (GRCm39) missense possibly damaging 0.93
IGL02676:Prdm8 APN 5 98,334,418 (GRCm39) missense probably damaging 1.00
R0060:Prdm8 UTSW 5 98,333,119 (GRCm39) missense probably benign 0.19
R0063:Prdm8 UTSW 5 98,332,453 (GRCm39) missense probably damaging 0.98
R0063:Prdm8 UTSW 5 98,332,453 (GRCm39) missense probably damaging 0.98
R0630:Prdm8 UTSW 5 98,332,380 (GRCm39) missense probably damaging 1.00
R1099:Prdm8 UTSW 5 98,331,361 (GRCm39) missense probably damaging 0.99
R4373:Prdm8 UTSW 5 98,334,367 (GRCm39) missense probably damaging 1.00
R4643:Prdm8 UTSW 5 98,332,446 (GRCm39) missense possibly damaging 0.61
R4936:Prdm8 UTSW 5 98,332,882 (GRCm39) critical splice acceptor site probably null
R4936:Prdm8 UTSW 5 98,332,881 (GRCm39) critical splice acceptor site probably null
R5033:Prdm8 UTSW 5 98,333,071 (GRCm39) nonsense probably null
R5495:Prdm8 UTSW 5 98,333,165 (GRCm39) missense possibly damaging 0.62
R6307:Prdm8 UTSW 5 98,333,162 (GRCm39) missense possibly damaging 0.84
R6562:Prdm8 UTSW 5 98,331,202 (GRCm39) missense possibly damaging 0.82
R6970:Prdm8 UTSW 5 98,332,471 (GRCm39) missense probably damaging 0.99
R7343:Prdm8 UTSW 5 98,332,375 (GRCm39) missense probably damaging 1.00
R8417:Prdm8 UTSW 5 98,332,390 (GRCm39) missense probably damaging 0.98
R9159:Prdm8 UTSW 5 98,334,175 (GRCm39) missense probably damaging 0.97
R9644:Prdm8 UTSW 5 98,333,638 (GRCm39) missense probably benign
Z1177:Prdm8 UTSW 5 98,334,410 (GRCm39) missense probably damaging 0.99
Z1177:Prdm8 UTSW 5 98,332,491 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTTCGTGGAGGTGAAGAAG -3'
(R):5'- TGGTGAGACCGCATATGGTAC -3'

Sequencing Primer
(F):5'- GGCTTGCAGGAGGAGGC -3'
(R):5'- TTCACAGCCAGCGGATCG -3'
Posted On 2020-10-20